检索结果 - Philip Murray
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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 由 Dan Hanson, Philip Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti‐Furga, Sue Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme Black, Peter Clayton
出版 2009Artigo -
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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth 由 Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black
出版 2011Artigo -
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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling 由 Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton
出版 2012Artigo -
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Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and th... 由 A.S. Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Véronique Beauloye, Joachim Pohlenz, Patrice Rodien, R. Coutant, Gabor Szinnai, Philip Murray, Beate Bartès, Dominique Luton, Mariacarolina Salerno, Luisa De Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak
出版 2020Revisão -
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Diagnosis and management of Silver–Russell syndrome: first international consensus statement 由 Emma Wakeling, Frédéric Brioude, Oluwakemi Lokulo‐Sodipe, Susan O’Çonnell, Jennifer Ben Salem, Jet Bliek, Ana Pinheiro Machado Canton, Krystyńa Chrzańowska, Justin H. Davies, Renuka Dias, B. Dubern, Miriam Elbracht, Éloïse Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken‐Koelega, Alexander A.L. Jorge, Masayo Kagami, Agnès Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip Murray, Tsutomu Ogata, Isabelle Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah Mackay, Irène Netchine
出版 2016Revisão -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ 由 Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers
出版 2016Artigo -
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients 由 Giovanna Mantovani, Murat Bastepe, David Monk, Luisa De Sanctis, Susanne Thiele, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Manasori Minagawa, Philip Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebeca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart
出版 2020Revisão -
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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement 由 Giovanna Mantovani, Murat Bastepe, David Monk, Luisa De Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart
出版 2018Revisão
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